Ngaba likho unyango lweCystic Fibrosis?

Umxholo

• Uphando
• Unyango lotshintsho lweGene
• Iimodyuli zeCFTR
• Ukungena ngaphakathi kwi-DNA
• Iziganeko
• Iingxaki
• Iingxaki zokuphefumla
• Iingxaki zokugaya
• Ezinye iingxaki
• Imbonakalo
• Ukuzibandakanya
• Imibutho yophando
• Uvavanyo lwezonyango

Ushwankathelo

ICystic fibrosis (CF) sisifo esizuzwe njengelifa esonakalisa imiphunga kunye nenkqubo yokwetyisa. I-CF ichaphazela iiseli zomzimba ezivelisa i-mucus. Olu lwelo lwenzelwe ukuhambisa umzimba kwaye zihlala zibhityile kwaye zincinci. I-CF yenza la manzi omzimba ashinyane kwaye ancangathi, nto leyo ebangela ukuba bakheke emiphungeni, kwiindlela zomoya nakwindlela yokwetyisa.

Ngelixa inkqubela phambili kuphando iluphucule kakhulu umgangatho wobomi kunye nokulindelwa kobomi babantu abane-CF, uninzi luya kufuna ukunyanga imeko ebomini babo bonke. Okwangoku, akukho lunyango lweCF, kodwa abaphandi basebenzela kwelinye. Funda ngophando lwamva nje kunye nento enokuthi ifumaneke kungekudala kubantu abane-CF.

Uphando

Njengakwiimeko ezininzi, uphando lweCF luxhaswa yimibutho ezinikeleyo ephakamisa imali, ikhusele iminikelo, kwaye ilwele izibonelelo zokugcina abaphandi besebenza kunyango. Nazi ezinye zeendawo eziphambili zophando ngoku.

Unyango lotshintsho lweGene

Kumashumi ambalwa eminyaka eyadlulayo, abaphandi bachonga uhlobo olunoxanduva lweCF. Oko kuye kwakhokelela kwithemba lokuba unyango olungena endaweni yemfuza luya kuba nakho ukutshintsha i-gene engalunganga kwi-vitro. Nangona kunjalo, olu nyango alukasebenzi okwangoku.

Iimodyuli zeCFTR

Kwiminyaka yakutshanje, abaphandi benze iyeza elijolise kwinjongo ye-CF, kunokuba ibe ziimpawu zalo. La machiza, ivacaftor (Kalydeco) kunye ne-lumacaftor / ivacaftor (i-Orkambi), ayinxalenye yeklasi yamachiza abizwa ngokuba yi-cystic fibrosis transmembrane conductance regulator (CFTR) modulators. Eli klasi leziyobisi liyilelwe ukuba lichaphazele uguquko oluguqukileyo olunoxanduva lwe-CF kwaye lubangele ukuba lenze ngokufanelekileyo ulwelo lomzimba.

Ukungena ngaphakathi kwi-DNA

Uhlobo olutsha lonyango lwemfuza lunokuthatha apho unyango lwangaphambili lonyango olungasasebenziyo luye lwasilela. Obu buchwephesha butsha busebenzisa iimolekyuli ze-DNA ezihambisayo ukuhambisa iikopi "ezicocekileyo" zemfuza kwiiseli zemiphunga. Kuvavanyo lokuqala, abaguli abasebenzisa olu nyango babonisa ukuphucuka kweempawu. Olu phuculo lubonisa isithembiso esikhulu kubantu abane-CF.

Akukho nanye kolu nyango lunyango lokwenyani, kodwa ngamanyathelo amakhulu okuya kubomi obungenasifo abantu abaninzi abane-CF abangazange babone.

Iziganeko

Namhlanje, bangaphezu kwama-30,000 abantu abaphila neCF eMelika. Sisifo esinqabileyo - ngabantu abamalunga ne-1 000 kuphela abafunyaniswa nyaka ngamnye.

Izinto ezimbini eziphambili zomngcipheko zonyusa amathuba omntu okuchongwa ukuba une-CF.

• Imbali yosapho: I-CF yimeko yofuzo. Ngamanye amagama, iyasebenza kwiintsapho. Abantu banokuyiphatha imfuza ye-CF ngaphandle kokuphazamiseka. Ukuba abathwali ababini banomntwana, loo mntwana unethuba elinye kwabane lokuba ne-CF. Kwakhona kunokwenzeka ukuba umntwana wabo uya kuthwala i-gene ye-CF kodwa angenayo ingxaki, okanye angenayo i-gene.
• Ubuhlanga: I-CF inokwenzeka kubantu bazo zonke iintlanga. Nangona kunjalo, ixhaphake kakhulu kubantu baseCaucasus kunye nookhokho abavela eMantla Yurophu.

Iingxaki

Iingxaki zeCF ngokubanzi ziwela ngokwendidi ezintathu. Ezi ndidi kunye neengxaki zibandakanya:

Iingxaki zokuphefumla

Ezi ayizizo kuphela iingxaki zeCF, kodwa zezona zixhaphakileyo:

• Umonakalo womoya: I-CF yonakalisa indlela yakho yomoya. Le meko, ibizwa ngokuba yi-bronchiectasis, yenza ukuphefumla ngaphakathi nangaphandle kube nzima. Ikwenza nokucoca imiphunga yengqindilili, incangathi kunamathele nzima.
• Iipolyps zempumlo: I-CF ihlala ibangela ukudumba kunye nokudumba kuludwe lweempumlo zakho. Ngenxa yokukrala, ukukhula okunesinyama (iipolyps) kunokukhula. Iipolyps zenza ukuphefumla kube nzima ngakumbi.
• Izifo ezenzeka rhoqo: I-mucus eqinileyo, enamathelayo yeyona ndawo iphambili yokuzalela iintsholongwane. Oku kwandisa umngcipheko wokuphuhlisa inyumoniya kunye ne-bronchitis.

Iingxaki zokugaya

ICF iphazamisa ukusebenza kwesiqhelo kwenkqubo yokwetyisa. Nazi ezinye zeempawu eziqhelekileyo zokugaya ukutya:

• Ukuthintelwa kwamathumbu emathunjini: Abantu abane-CF banomngcipheko okhulayo wokuphazamiseka kwamathumbu ngenxa yokudumba okubangelwa kukuphazamiseka.
• Ukunqongophala kwesondlo: Ubunzima be-mucus obubangelwa yi-CF bunokuthintela inkqubo yakho yokwetyisa kwaye kuthintele ulwelo olufunekayo lokufunxa izakhamzimba zingafiki emathunjini akho. Ngaphandle kwala manzi, ukutya kuya kudlula kwinkqubo yakho yokwetyisa ngaphandle kokufakwa. Oku kukugcina ungafumani sibonelelo sondlo.
• Isifo seswekile: I-mucus eshinyeneyo, encangathi eyenziwe yi-CF scars ipancreas kwaye iyasithintela ekusebenzeni ngokufanelekileyo. Oku kunokuthintela umzimba ekuveliseni i-insulin eyaneleyo. Ukongeza, i-CF inokuthintela umzimba wakho ekuphenduleni kwi-insulin ngokufanelekileyo. Zombini ezi ngxaki zinokubangela isifo seswekile.

Ezinye iingxaki

Ukongeza kwimicimbi yokuphefumla kunye nokwetyisa, i-CF inokubangela ezinye iingxaki emzimbeni, kubandakanya:

• Imiba yokuchuma: Amadoda ane-CF phantse ahlala engazali. Kungenxa yokuba i-mucus eshinyeneyo ihlala ibhloka ityhubhu ehambisa ulwelo olusuka kwindlala yesinyi ukuya kwiimvavanyo. Abasetyhini abane-CF banokuchuma kancinci kunabafazi ngaphandle kwesi sifo, kodwa uninzi luyakwazi ukuba nabantwana.
• I-Osteoporosis: Le meko, ebangela amathambo amancinci, ixhaphakile kubantu abane-CF.
• Ukuphelelwa ngamanzi emzimbeni: I-CF yenza ukuba kube nzima ukulinganisela kweemaminerali emzimbeni wakho. Oku kunokubangela ukuphelelwa ngamanzi emzimbeni, kunye nokungalingani kwe-electrolyte.

Imbonakalo

Kumashumi eminyaka akutshanje, umbono wabantu abafunyaniswe ukuba une-CF uye waphucuka ngokumangalisayo. Ngoku akuqhelekanga kubantu abane-CF ukuba baphile kwi-20 kunye ne-30. Abanye banokuphila ixesha elide.

Okwangoku, unyango lonyango lwe-CF lujolise ekunciphiseni iimpawu kunye neempawu zeso simo kunye neziphumo zonyango. Unyango lukwajolise ekuthinteleni iingxaki kwesi sifo, ezinjengosulelo lwebhaktiriya.

Nokuba uphando oluthembisayo luyaqhubeka, unyango olutsha okanye unyango lwe-CF lusenokwenzeka ukuba alukho minyaka. Unyango olutsha lufuna iminyaka yophando kunye novavanyo ngaphambi kokuba iarhente ezilawulayo zivumele izibhedlele kunye noogqirha ukuba bazinike izigulana.

Ukuzibandakanya

Ukuba une-CF, yazi umntu one-CF, okanye unomdla wokufumana unyango kwesi sifo, ukubandakanyeka ekuxhaseni uphando kulula kakhulu.

Imibutho yophando

Uninzi lophando olunokubakho kunyango lweCF luxhaswa yimibutho esebenza egameni labantu abaneCF kunye neentsapho zabo. Ukunikela kubo kunceda ekuqinisekiseni ukuqhubeka kophando kunyango. Le mibutho ibandakanya:

• ICystic Fibrosis Foundation: I-CFF ngumbutho ovunyiweyo weShishini elisebenza ukuxhasa ngemali uphando kunyango kunye nonyango oluphambili.
• ICystic Fibrosis yoPhando, i-Inc.: I-CFRI ngumbutho wesisa ovunyiweyo. Injongo yayo ephambili kukuxhasa ngemali uphando, ukubonelela ngenkxaso kunye nemfundo kwizigulana nakwiintsapho, kunye nokwazisa ngeCF.

Uvavanyo lwezonyango

Ukuba une-CF, unokulungela ukuthatha inxaxheba kuvavanyo lweklinikhi. Uninzi lolu vavanyo lweklinikhi luqhutywa kwizibhedlele zophando. Iofisi kagqirha wakho unokunxibelelana nelinye lala maqela. Ukuba abenzi njalo, unganakho ukufikelela komnye wale mibutho ingentla kwaye uqhagamshelwe kummeli onokukunceda ufumane uvavanyo oluvulekileyo nolwamkela abathathi-nxaxheba.